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排序方式: 共有8539条查询结果,搜索用时 15 毫秒
101.
Michael Zech MD Robert Jech MD PhD Sylvia Boesch MD Matej Škorvánek MD PhD Ján Necpál MD Jana Švantnerová MD Matias Wagner MD Ariane Sadr-Nabavi PhD Felix Distelmaier MD Martin Krenn MD PhD Tereza Serranová MD PhD Irena Rektorová MD PhD Petra Havránková MD PhD Alexandra Mosejová MD Iva Příhodová MD PhD Jana Šarláková MD Kristína Kulcsarová MD Olga Ulmanová MD PhD Karel Bechyně MD Miriam Ostrozovičová MD Vladimír Haň MD PhD Joaquim Ribeiro Ventosa MD Theresa Brunet MD Riccardo Berutti PhD Mohammad Shariati MD Ali Shoeibi MD Susanne A. Schneider MD Alice Kuster MD Matthias Baumann MD David Weise MD Friederike Wilbert MD Wibke G. Janzarik MD Matthias Eckenweiler MD Volker Mall MD Bernhard Haslinger MD Steffen Berweck MD Juliane Winkelmann MD Konrad Oexle MD 《Movement disorders》2021,36(8):1959-1964
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Jorge Castell Sarriera Lívia Maria Bedin Miriam Raquel W. Strelhow 《Journal of community psychology》2021,49(1):218-227
Safety is considered an important aspect of life and well‐being. However, few studies have examined the relationship between safety and well‐being among children, especially in Latin American. This study aims at analyzing the relationship between perceptions of safety and children's subjective well‐being, considering children's school, city context, and sex. Participants were 2,200 Brazilian children (10–13 years old) who answered the single item on Overall Life Satisfaction, the Satisfaction With Life Student Scale, and four items regarding safety perceptions. Through analysis of variance and structural equation modeling (SEM), results indicate that children who live in inner cities and study in private schools have significantly higher averages of safety perception. Also, boys present higher averages about how safe they feel. SEM presents a positive and significant relationship between safety perception and children's subjective well‐being and multigroup SEM indicates invariance of the model across groups. Safety is presented as an important component of well‐being. Interventions aimed at promoting safety and community ties can enhance children's well‐being. 相似文献
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De Luca Stefano Pérez de los Ríos Miriam 《International journal of legal medicine》2021,135(3):885-892
International Journal of Legal Medicine - Textiles damage analysis is a very valuable tool in forensic investigations. However, to date, very little research has been carried out to understand the... 相似文献
107.
Miriam Schmidts Valeska Frank Tobias Eisenberger Saeed al Turki Albane A. Bizet Dinu Antony Suzanne Rix Christian Decker Nadine Bachmann Martin Bald Tobias Vinke Burkhard Toenshoff Natalia Di Donato Theresa Neuhann Jane L. Hartley Eamonn R. Maher Radovan Bogdanovi Amira Peco‐Anti Christoph Mache Matthew E. Hurles Ivana Joksi Marija Gu‐eki Jelena Dobricic Mirjana Brankovic‐Magic Hanno J. Bolz Gregory J. Pazour Philip L. Beales Peter J. Scambler Sophie Saunier Hannah M. Mitchison Carsten Bergmann 《Human mutation》2013,34(5):714-724
Ciliopathies are genetically heterogeneous disorders characterized by variable expressivity and overlaps between different disease entities. This is exemplified by the short rib‐polydactyly syndromes, Jeune, Sensenbrenner, and Mainzer‐Saldino chondrodysplasia syndromes. These three syndromes are frequently caused by mutations in intraflagellar transport (IFT) genes affecting the primary cilia, which play a crucial role in skeletal and chondral development. Here, we identified mutations in IFT140, an IFT complex A gene, in five Jeune asphyxiating thoracic dystrophy (JATD) and two Mainzer‐Saldino syndrome (MSS) families, by screening a cohort of 66 JATD/MSS patients using whole exome sequencing and targeted resequencing of a customized ciliopathy gene panel. We also found an enrichment of rare IFT140 alleles in JATD compared with nonciliopathy diseases, implying putative modifier effects for certain alleles. IFT140 patients presented with mild chest narrowing, but all had end‐stage renal failure under 13 years of age and retinal dystrophy when examined for ocular dysfunction. This is consistent with the severe cystic phenotype of Ift140 conditional knockout mice, and the higher level of Ift140 expression in kidney and retina compared with the skeleton at E15.5 in the mouse. IFT140 is therefore a major cause of cono‐renal syndromes (JATD and MSS). The present study strengthens the rationale for IFT140 screening in skeletal ciliopathy spectrum patients that have kidney disease and/or retinal dystrophy. 相似文献
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